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Genetic Disease
Genetic Disease
FIGURE1-1(This image shows which parts of the body that adrenoleukodystrophy affects [University of Maryland Medical Center:umm.edu])
FIGURE 1-2 (This image shows Lorenzo Odone whose family found the oils that are used as treatments for many people with Adrenoleukodystrophy [foxnews.com])
CHARACTERISTICS
Adrenoleukodystrophy is characterized as long fatty acid chains causing damage to the myelin sheath that surrounds nerve cells in the brain. It is only one of a group of leukodystrophies. There are three major forms of adrenoleukodystrophy: -Childhood cerebral form - appears at ages 4 - 8 -Adrenomyelopathy -- occurs in men in their 20s or later in life -Impaired adrenal gland function when the adrenal gland does not produce enough steroid hormones
CAUSES
This disease is X-chromosome related and is passed down from parents. It is most common in men since they have only one X chromosome but women are known to pass down the gene as well. The disease is developed when someoneaccumulates long chains of fatty acids that surround the brain and adrenal glands (FIGURE 1-1) because they do not produce the enzymes that break them down.
Difficulty understanding spoken material Hearing loss Hyperactivity Worsening nervous system deterioration (Coma, decreased fine motor control, Paralysis) Seizures Swallowing difficulties Visual impairment or blindness
DIAGNOSIS
To diagnose the problem your doctor would check your blood levels, do a chromosome study to look for changes in the ABCD1 gene and take an MRI scan of your head.
TREATMENT
There is no cure for Adrenoleukodystrophy.A specific treatment for X-linked adrenoleukodystrophy is not available but people with adrenal functions do take steroids.Eating a diet low in very-long-chain fatty acids can help and taking special oils (Lorenzo s Oils) can lower their blood levels but is not a cure and does not work for all patients.Bone marrow transplant is also being tested as an experimental treatment. Children who develop this disease can live with the condition for up to ten years before death occurs.
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